(Q34145220)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

case report

0 references

title

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

4 November 2019

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Olivia Osborn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

A M Dearlove

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M T Rogers

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

D C Rubinsztein

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 February 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

66

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

728-732

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

The hereditary spastic paraplegias.

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Cloning, expression, and mapping of CKAPI, which encodes a putative cytoskeleton-associated protein containing a CAP-GLY domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Molecular genetics of familial spastic paraplegia: a multitude of responsible genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Faster sequential genetic linkage computations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Avoiding recomputation in linkage analysis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288126

Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity

28 October 2018

1 reference

12 December 2020

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

12 December 2020

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

1 reference

12 December 2020

Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3.

1 reference

12 December 2020

Identifiers

DOI

10.1086/302783

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10677333%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

10677333

1 reference